Non-convulsive status epilepticus as the initial manifestation in a family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease.

Non-convulsive status epilepticus as the initial manifestation in a family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). / Status epilepticus no convulsivo como manifestación inicial en una familia con arteriopatía autosómica dominante cerebral con infartos subcorticales y leucoencefalopatía (CADASIL).

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease.

[Trident sign in spinal cord neurosarcoidosis]. / Signo del tridente en la neurosarcoidosis medular.

TITLE: Signo del tridente en la neurosarcoidosis medular.

Bilateral and simultaneous ischemic optic neuropathy following hip replacement surgery.

Ischemic optic neuropathy, is an exceptional complication of surgery. Moreover, bilateral and simultaneous visual deficit in ischemic optic neuropathy is very rare. We describe two patients who suffered bilateral and simultaneous ischemic optic neuropathy after elective total hip replacement. Anemia and hypotension are the most likely risk factors.

Neutrophil function, nitric oxide, and blood oxidative stress in Parkinson's disease.

We studied nitrogen radical nitric oxide (.NO) release and reactive oxygen species (ROS) production by isolated neutrophils after phorbol myristate acetate (PMA) stimulation in 12 newly diagnosed and nine treated Parkinson's disease (PD) patients and 10 age-matched healthy controls. Neutrophils of both groups of PD patients had an elevated PMA-activated release of .NO [61 and 57%, respectively, higher than that of controls (p < 0.05)]. In contrast, H2O2 release was only significantly increased by 56% in chronically treated patients. In agreement, the maximum rate of luminol-dependent chemiluminescence, which partly represents O2- H2O2- .NO interactions, was increased only in the treated group. When other blood markers of oxidative stress were compared, only erythrocyte catalase activity was decreased in both PD patient series by 33 and 39%, respectively (p < 0.05), whereas plasma antioxidant capacity and erythrocyte superoxide dismutase activity levels were decreased only in treated PD patients. This study suggests that neutrophils express a primary alteration of .NO release in PD patients, whereas H2O2 and oxidative-stress parameters are more probably related to the evolution of PD or to effects of treatment with L-dopa.

Gilles de la Tourette syndrome: clinical features of 75 cases from Argentina.

A series of 75 cases of Gilles de la Tourette syndrome (GTS) from Argentina, whose ages ranged from 6 to 55 with a mean of 20.02, were evaluated to compare findings with those reported for other countries. Mean age at onset was 7.44 years and mean overall duration of symptoms was 12.58 years; 6.7% of cases were mild, 49% moderate and 44.3% severe. Most frequent presenting motor tics were excessive blinking in 41 followed by head jerking in 16 and eye winking in six, while phonic tics included coprolalia in 28.0%, echolalia in 17.5% and palilalia in 10.8%. Abnormal perinatal events were reported in 40.5%, while positive family history for tics was present in 26.66%. Obsessive-compulsive behaviour was evident in 66% and attention deficit disorder in 16% of cases. Self-injurious behaviour comprised onychophagia in 28 patients, lip-biting in seven and self-slapping in eight cases. Almost half of our patients were initially interpreted as having a psychogenic disorder indicating that GTS in Argentina is most likely underdiagnosed. It may be concluded that the overall pattern of GTS is not dissimilar to that described for European, Asian and American populations, thus highlighting the previously recognized cross-cultural uniformity.

L-dopa malabsorption in a parkinsonian patient with Strongyloides stercoralis duodenitis.

We report a parkinsonian patient initially responding to L-dopa who developed a severe loss of drug efficacy due to Strongyloides stercoralis duodenitis. The patient was put on mebendazole and metronidazole, and the parasitosis abated, allowing L-dopa reduction by 33%. Our patient illustrates the advisability of searching for Strongyloides stercoralis when L-dopa malabsorption is suspected in Parkinson's disease.

[Neurologic complications by cocaine abuse]. / Complicaciones neurológicas por abuso de cocáina.

Argentina is facing an increase in cocaine use by adolescents and young adults from every socioeconomic background. It is calculated that up to 10% of all cocaine passing through this country is locally sold and consumed. Nevertheless, local information describing common cocaine-related neurological events is scarce. From August 1988 to March 1993, 13 patients were evaluated with neurological disease associated with cocaine abuse. Among these 13 patients (Table 1), the mean age was 29; 70% were men. Patients most commonly used the nasal route (snorting). Concomitant abuse of other intoxicants, especially alcohol, was frequent (85%). The major neurological complications included one or more seizures (n = 7), ischemic stroke (n = 2) (Fig. 1-2), hemorrhagic stroke (n = 2) associated with arteriovenous malformation (Fig. 3a-b), memory disturbances (n = 1) and paroxysmal dystonia (n = 1). Psychiatric complaints were present in all patients. Mortality was not observed. There was no correlation between the appearance of complications and the amount of cocaine used, or prior experience with this drug. Only one of the 7 patients with seizures had a previous history of seizures. All had generalized tonic-clonic seizures, and one had concomitant absence episodes. Cocaine modulates central neurotransmitters and has direct cerebrovascular effects. The neurological complications appear to be related to cocaine hyperadrenergic effects, striatal dopaminergic receptor hypersensitivity and perhaps vasculitis. Structural changes in the brain of long-term cocaine abusers could explain the persistence of neurologic symptoms after drug withdrawl.

Complicaciones neurológicas por abuso de cocaína / Neurologic complications by cocaine abuse

El consumo de cocaina ha adquirido proporciones epidemiológicas en los EEUU. Actualmente en nuestro país, sitio de paso de la droga, un 10 por ciento es retenida para su consumo, calculandose que un 80 por ciento de los drogadictos utilizan este alcaloide. Presentamos 13 paciente, 9 hombres y 4 mujeres con edades que oscilan entre 19 y 43 años que presentaron sintomatología por consumo de cocaína. Siete pacientes presentaron convulsiones y en uno de ellos se asociaron ausencias. Cuatro casos sufrieron accidentes cerebrovasculares, 2 de ellos isquémico y los otros hemorrágico, secundario a ruptura de malformaciones vasculares. Un paciente presentó fallas mnésicas severas y otro crisis distónicas paroxísticas. Todo menos uno consumían la cocaína por vía nasal y salvo 2 pacientes, el resto utilizaba otras drogas. El consumo concomitante de etanol era una práctica frecuente. La discontinuidad en el consumo del acaloide provó mejoría en las crisis epilépicas durante el período de seguimiento, salvo en el paciente con ausencias. El paciente con fallas mnésicas evidenció una marcada mejoría al cabo de 4 años de suspendida la cocaína. La paciente con crisis distónicas paroxísticas, al cabo de 2 años de haber suprimido la droga, persistía con el cuadro distónico. En 11 casos hubo una relación temporal entre el consumo de cocaína y la sintomatología neurológica, mientras que en los 2 restantes se debería al consumo crónico. Esto se debe a cambios farmacológicos y eventualmente estructurales en el sistema nervioso central. La frecuencia de estos casos, otrora excepcionales en nuestro medio, ha aumentado sensiblemente, obligando a considerar el consumo de este alcaloide en el enfoque diagnóstico de pacientes jóvenes con eventos neurológicos

Distonías craneales: perfil clínico y neurofarmacológico en 123 casos / Cranial dystonias: clinical and neuropharmacological profile in 123 cases

El blefaroespasmo aislado (BE) y/o asociado a distonía oromadibular (DOM) constituye una de las formas más frecuentes de distonía focal/segmentaria de inicio en la edad adulta. En los últimos 10 años evaluamos 123 pacientes con BE y BE + DOM. Observamos una predominancia de 3 a 1 en mujeres sobre varones, con una edad promedio de inicio de los síntomas de 52 años. Si bien algunos pacientes presentaron un comienzo unilateral, todos evolucionaron en forma bilateral. La remisión espontánea de los síntomas ocurrió en sólo 3 pacientes. El error diagnóstico más frecuente consistió en interpretar este cuadro como psicógeno u ocular. Los estudios por imágenes (TC y MRI) demostraron anormalidades en 12 casos que correspondieron a lesiones en ganglios basales en 6 de los mismos. En nuestra serie, 4 pacientes presentaron historia familiar de distonía craneal. El tratamiento de elección fue la administración local por vía subcutánea de toxina botulínica. Estos hallazgos son homologables a otras series internacionales. Creemos que el reconocimiento clínico-epidemiológico de esta afección, a menudo incapacitante, facilitará un mejor y más rápido diagnóstico y ofrecerá una posibilidad terapéutica sencilla que demuestra un alto grado de seguridad y eficacia

Bruxism secondary to chronic antidopaminergic drug exposure.

Eight cases of diurnal bruxism (DB) secondary to long-term antidopaminergic drug exposure are reported. Five exhibited a grinding pattern, one a clenching form, and two a mixed type. An odontological etiology was absent throughout. EMG recordings disclosed two distinct patterns of muscle activity, one with brief rhythmic, forceful contractions and the other featuring sustained prolonged contractions. Surface EMG and EEG monitoring during a 24-h period confirmed the absence of bruxism during sleep. Several drug trials failed to provide relief. Our findings support DB as a focal tardive dystonia syndrome.

[The long QT syndrome: epilepsy as the form of presentation]. / Síndrome QT prolongado: epilepsia como forma de presentación.

Prolongation of the QT interval, either on a congenital or an acquired basis, is associated with an increased likelihood of malignant ventricular arrhythmias with a high rate of morbimortality. Symptoms are variables, and patients may develop seizures, syncope and sudden death. Herein we report a young woman 17 years old with long QT syndrome, seizures and recurrent attacks of syncope; her initial diagnosis was primary epilepsy. An electrocardiogram performed 3 years after the initials symptoms was able to make the diagnosis long QT syndrome. The specific treatment controlled the malignant ventricular arrhythmias and the symptomatic status of this patient.

[Hypoglycemic hemiparesis]. / Hemiparesia hipoglucémica.

The common signs of hypoglycemia include: tachycardia, diaphoresis and vertigo which may be associated to disturbances of the consciousness. Occasionally, focal neurological signs occur with conservation of consciousness which are erroneously interpreted as cerebral vascular disease. An insulin dependent diabetic patient is presented with an initial diagnosis of transient ischemic attack (TIA) with right hemiparesis and dysarthria associated to hypoglycemia (35 mg %) whose remission occurred following the correction of glycemia. The different physiopathogenic mechanisms were also revised postulating (selective neuronal vulnerability, vasospasms and subjacent vascular disease) and the need for considering this diagnosis must be emphasized in those diabetic patients with focal neurological symptoms.